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Table 1 Clinical characteristics of a cohort of CAH-X and CAH patients and carriers

From: Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH-X

 

Monoallelic

CAH-X CH-1 (n = 16)a

Monoallelic

CAH-X CH-2 (n = 13)

Biallelic

CAH-X (n = 3)

CAH-X carrier

Relatives (n = 16)

CAH only (n = 70)

Age, years (range)

23.1 ± 10.5 (4–38)

23.2 ± 15.5 (5–43)

21.3 ± 7.6 (14–29)

49.4 ± 16.2 (20–74)

25.7 ± 14.9 (2–68)

Female

8 (50.0)

7 (53.8)

0 (0)

10 (62.5)

43 (61.4)

Generalized hypermobilityb

6 (42.9)

(n = 14)e

6 (46.2)

3 (100)

3 (20)

(n = 15)e

6 (12.2)

(n = 49)e

Subluxations

6 (40.0)

5 (38.5)

2 (66.7)

1(6.7)

(n = 15)e

12 (17.1)

Chronic arthralgia

5 (31.3)

4 (30.8)

1 (33.3)

7 (43.8)

2 (2.8)

Chronic tendonitis

2 (12.5)

4 (30.8)

0 (0)

3 (20)

(n = 15)e

2 (2.8)

Hyperextensible skin

2 (12.5)

7 (53.8)

3 (100)

0 (0)

(n = 15)e

0 (0)

Wide scars

3 (18.8)

2 (15.4)

2 (66.7)

0 (0)

(n = 15)e

0 (0)

Easy bruising

5 (31.3)

4 (30.8)

3 (100)

1 (6.7)

(n = 15)e

0 (0)

Poor wound healing

0 (0)

0 (0)

1 (33.3)

0 (7.1)

(n = 15)e

0 (0)

Gastrointestinal disorderc

1 (6.3)

4 (30.8)

1 (33.3)

0 (0)

(n = 15)e

4 (5.7)

Hernia or rectal prolapse

0 (0)

3 (23.1)

2 (66.7)

1 (6.7)

(n = 15)e

1 (1.4)

Congenital cardiac defectd

3 (18.8)

3 (23.1)

0 (0)

3 (20.0)

(n = 15)e

0 (0)

Cardiac chamber enlargement

2 (14.3)

(n = 14)e

0 (0)

(n = 10)e

2 (66.7)

4 (26.7)

(n = 15)e

1 (2.9)

(n = 35)e

Enlarged aortic root

0 (0)

(n = 14)e

2 (20)

(n = 10)e

0 (0)

2 (13.3)

(n = 15)e

0 (0)

(n = 34)e

  1. Values are numbers with percentages in parentheses or mean ± standard deviation
  2. aOne patient omitted due to lack of clinical data
  3. bGeneralized hypermobility defined as a Beighton score of 4 of 9 or above for those > 50 years of age, 5 of 9 or above for post pubertal adolescents and adults, and 6 of 9 or above for children [13]
  4. cGastrointestinal chronic disorder included irritable bowel syndrome and gastroesophageal reflux disease
  5. dCardiac congenital disorder included left ventricular diverticulum, patent foramen ovale, or a structural valve abnormality
  6. eValues adjusted for missing data